Page last updated: 2024-10-06

11p11.2 copy number variation syndrome

Proteins (2)

ProteinSynonymsTaxonomy
Peroxisomal membrane protein PMP3434 kDa peroxisomal membrane protein; Solute carrier family 25 member 17Homo sapiens (human)
Peroxisomal biogenesis factor 3Peroxin-3; Peroxisomal assembly protein PEX3Homo sapiens (human)

Compounds (13)

CompoundDescription
Succinate
uridine diphosphateA uracil nucleotide containing a pyrophosphate group esterified to C5 of the sugar moiety.
ironA metallic element with atomic symbol Fe, atomic number 26, and atomic weight 55.85. It is an essential constituent of HEMOGLOBINS; CYTOCHROMES; and IRON-BINDING PROTEINS. It plays a role in cellular redox reactions and in the transport of OXYGEN.
Carbon DioxideA colorless, odorless gas that can be formed by the body and is necessary for the respiration cycle of plants and animals.
formaldehydeA highly reactive aldehyde gas formed by oxidation or incomplete combustion of hydrocarbons. In solution, it has a wide range of uses: in the manufacture of resins and textiles, as a disinfectant, and as a laboratory fixative or preservative. Formaldehyde solution (formalin) is considered a hazardous compound, and its vapor toxic. (From Reynolds, Martindale The Extra Pharmacopoeia, 30th ed, p717)
MagnesiumA metallic element that has the atomic symbol Mg, atomic number 12, and atomic weight 24.31. It is important for the activity of many enzymes, especially those involved in OXIDATIVE PHOSPHORYLATION.
OxygenAn element with atomic symbol O, atomic number 8, and atomic weight [15.99903; 15.99977]. It is the most abundant element on earth and essential for respiration.
Guanosine MonophosphateA guanine nucleotide containing one phosphate group esterified to the sugar moiety and found widely in nature.
keratan sulfateA sulfated mucopolysaccharide initially isolated from bovine cornea. At least two types are known. Type I, found mostly in the cornea, contains D-galactose and D-glucosamine-6-O-sulfate as the repeating unit; type II, found in skeletal tissues, contains D-galactose and D-galactosamine-6-O-sulfate as the repeating unit.
vinylglycineirreversible inhibitor of aspartate aminotransferase; structure
adenosine 3'-phosphate-5'-phosphate
alpha-Ketoglutarate
phosphoadenosine phosphosulfate3'-Phosphoadenosine-5'-phosphosulfate. Key intermediate in the formation by living cells of sulfate esters of phenols, alcohols, steroids, sulfated polysaccharides, and simple esters, such as choline sulfate. It is formed from sulfate ion and ATP in a two-step process. This compound also is an important step in the process of sulfur fixation in plants and microorganisms.